Forschung & Innovation
Publikationen
A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.
PMU Autor*innen
Johannes A. Mayr, Johannes Koch, Franz Zimmermann, Christian Rauscher, Wolfgang Sperl
Alle Autor*innen
Johannes A. Mayr, Johannes Koch, Christine Fauth, Franz Zimmermann, Christian Rauscher, Johannes Zschocke, Wolfgang Sperl
Fachzeitschrift
NEUROPEDIATRICS
Kurzfassung
Keywords
MUTATIONS, SPECTRUM, DISORDER, DEHYDROGENASE COMPLEX DEFICIENCY, SOMATIC MOSAICISM